Canonical Allele Identifier: PA2579795729
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser174Ile
CA410601299
NM_000071.3:c.521G>T
CA2579804750
NM_000071.3:c.521_522delinsTT